Molecular tools for presymptomatic testing in multiple endocrine neoplasia type 1

J Intern Med. 1995 Sep;238(3):239-44. doi: 10.1111/j.1365-2796.1995.tb00929.x.

Abstract

The aim of this workshop session was to define a set of molecular tools for pre-clinical diagnosis in affected families, and to assess presence or absence of linkage to 11q13 in families with classical MEN1 as well as with MEN1-related clinical features. A consensus linkage map of first- and second-choice markers based on PCR as well as Southern blotting was established at the workshop. Based on the results from linkage analysis in 87 families with classical MEN1, presymptomatic testing using the suggested panel of markers, can now be performed with great accuracy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acromegaly / genetics
  • Alleles
  • Base Sequence
  • Blotting, Southern
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Hyperparathyroidism / genetics
  • Molecular Sequence Data
  • Multiple Endocrine Neoplasia Type 1 / diagnosis
  • Multiple Endocrine Neoplasia Type 1 / genetics*
  • Polymerase Chain Reaction

Substances

  • Genetic Markers